Canonical Allele Identifier: CA2803844218

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978168_39978170del , CM000677.2:g.39978168_39978170del	GRCh38
NC_000015.9:g.40270369_40270371del , CM000677.1:g.40270369_40270371del	GRCh37
NC_000015.8:g.38057661_38057663del	NCBI36
NG_034053.1:g.49045_49047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2319+21_2319+23del MANE Select	ENSP00000263791.5:n.2319+21_2319+23del
ENST00000263791.9:c.2319+21_2319+23del	ENSP00000263791.5:n.2319+21_2319+23del
ENST00000560855.5:c.1735+21_1735+23del
ENST00000624709.1:n.1190_1192del
NM_001013703.3:c.2319+21_2319+23del	NP_001013725.2:n.2319+21_2319+23del
XM_005254392.1:c.2319+21_2319+23del	XP_005254449.1:n.2319+21_2319+23del
XM_011521599.1:c.2319+21_2319+23del	XP_011519901.1:n.2319+21_2319+23del
XM_011521600.1:c.2319+21_2319+23del	XP_011519902.1:n.2319+21_2319+23del
XM_005254392.3:c.2319+21_2319+23del	XP_005254449.1:n.2319+21_2319+23del
XM_011521599.2:c.2319+21_2319+23del	XP_011519901.1:n.2319+21_2319+23del
XM_011521600.3:c.2319+21_2319+23del	XP_011519902.1:n.2319+21_2319+23del
XM_017022219.2:c.2319+21_2319+23del	XP_016877708.1:n.2319+21_2319+23del
NM_001013703.4:c.2319+21_2319+23del MANE Select	NP_001013725.2:n.2319+21_2319+23del